| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126807619, NSD1 (R1778* +5 more) | Single nucleotide variant (nonsense) | Acute myeloid leukemia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant) | RASopathy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +1 more | GConflicting classifications of pathogenicity |
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